The first case of Al-Raqad syndrome in Japan is associated with a homozygous DCPS exonic variant resulting in aberrant splicing
We successfully diagnosed a case of unexplained NDD as Al-Raqad syndrome by WES along with mRNA analysis. Single base substitution with judged VUS can be pathogenic by causing aberrant splicing and, therefore, in silico analysis and subsequent RNA sequence are necessary to prove its pathogenicity.
Authors
- Hiroaki Hanafusa
- Hideaki Kitakado (ORCID: https://orcid.org/0000-0001-7763-4675)
- Kandai Nozu (ORCID: https://orcid.org/0000-0002-0290-3137)
- China Nagano (ORCID: https://orcid.org/0000-0003-4946-1345)
- Chika Ueda (ORCID: https://orcid.org/0000-0003-3390-0235)
- Yu Tanaka (ORCID: https://orcid.org/0000-0001-5107-2491)
- Yuta Inoki (ORCID: https://orcid.org/0009-0005-8645-5464)
- Hiroshi Yamaguchi (ORCID: https://orcid.org/0000-0001-9148-7990)
- Nana Sakakibara
- Shingo Ishimori (ORCID: https://orcid.org/0000-0003-3863-2743)
- Tomoko Horinouchi (ORCID: https://orcid.org/0000-0003-1655-6030)
- Naoya Morisada (ORCID: https://orcid.org/0000-0003-2936-6615)
- Tomohiko Yamamura
- H Nozaki
Institutions
- Kobe University (JP)
Publication Details
- Journal
- Brain and Development
- Published
- 2025-05-09
- DOI
- https://doi.org/10.1016/j.braindev.2025.104366
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- Ministry of Education, Culture, Sports, Science and Technology